Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series [PDF]
GenesBackground: Episodic ataxia type 2 (EA2) is a rare disorder characterized by paroxysmal gait instability, dysarthria, and dizziness. It is caused by CACNA1A mutations.
Haruo Shimazaki
exaly +3 more sources
Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation. [PDF]
Frontiers in Cellular Neuroscience, 2015 Spinocerebellar Ataxia type 6 is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia.
Paola eGiunti +4 more
doaj +2 more sources
Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant [PDF]
Case Reports in Neurology, 2021 Episodic vestibulocerebellar ataxias are rare diseases, frequently linked to mutations in different ion channels. Our objective in this work was to describe a kindred with episodic vestibular dysfunction and ataxia, associated with a novel CACNA1G ...
José Gazulla +4 more
doaj +4 more sources
Case report of novel gene mutation causing episodic ataxia type 2
SAGE Open Medical Case Reports, 2017 Background: Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with
David Alan Isaacs +3 more
doaj +2 more sources
Febrile Episodic Ataxia with Novel Mutation [PDF]
Pediatric Neurology Briefs, 2004 An episodic ataxia type 2 (EA2) kindred with ataxic spells induced by fever or high environmental temperature and a novel CACNA1A mutation were identified and reported from the Universities of Mississippi and Minnesota.
J Gordon Millichap
doaj +2 more sources
An exploration of the lived experience of progressive cerebellar Ataxia: An interpretative phenomenological analysis [PDF]
, 2012 This thesis was submitted for the degree of Doctor of Philosophy and was awarded by Brunel UniversityBackground and Purpose: Progressive cerebellar ataxia is a rare neurological condition characterised by uncoordinated movement, and impaired speech ...
Cassidy, Elizabeth Emma
core +7 more sources
Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions. [PDF]
CerebellumSpinocerebellar ataxia 27 A (SCA27A) is a form of progressive cerebellar ataxia due to pathogenic variants in the Fibroblast Growth Factor 14 (FGF14) gene.
Conci E +4 more
europepmc +9 more sources
EBioMedicine, 2023 Summary: Background: Variants in SCN8A are associated with a spectrum of epilepsies and neurodevelopmental disorders. Ataxia as a predominant symptom of SCN8A variation has not been well studied. We set out to investigate disease mechanisms and genotype–
Hang Lyu +22 more
doaj +1 more source
Kinesigenic Triggers in Episodic Ataxia Type 1 [PDF]
Movement Disorders Clinical Practice, 2020 Claudio de Gusmão +2 more
exaly +2 more sources
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2 [PDF]
Biomedicines, 2020 Fanny Jaudon +2 more
exaly +2 more sources